Linked Data
ClinVar Variation Id:
2148594
ClinVar RCV Id:
RCV003063475
dbSNP Id:
rs1950909421
gnomAD v3:
12-48145013-TTA-T
gnomAD v4:
12-48145013-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48145015_48145016del , CM000674.2:g.48145015_48145016del | GRCh38 |
| NC_000012.11:g.48538798_48538799del , CM000674.1:g.48538798_48538799del | GRCh37 |
| NC_000012.10:g.46825065_46825066del | NCBI36 |
| NG_016199.1:g.44143_44144del | |
| NG_016199.2:g.44763_44764del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550257.7:c.2215-16_2215-15del | ENSP00000447997.3:n.2215-16_2215-15del | |
| ENST00000340802.12:c.2206-16_2206-15del | ENSP00000345771.6:n.2206-16_2206-15del | |
| ENST00000359794.11:c.1993-16_1993-15del MANE Select | ENSP00000352842.5:n.1993-16_1993-15del | |
| ENST00000549941.7:c.1735-16_1735-15del | ENSP00000446829.3:n.1735-16_1735-15del | |
| ENST00000550345.6:c.1993-16_1993-15del | ENSP00000450369.2:n.1993-16_1993-15del | |
| ENST00000550924.6:c.1993-16_1993-15del | ENSP00000446945.2:n.1993-16_1993-15del | |
| ENST00000551339.6:c.1993-16_1993-15del | ENSP00000448253.2:n.1993-16_1993-15del | |
| ENST00000642730.1:c.2302-16_2302-15del | ENSP00000496597.1:n.2302-16_2302-15del | |
| ENST00000312352.11:c.1993-16_1993-15del | ENSP00000309438.7:n.1993-16_1993-15del | |
| ENST00000340802.10:c.2206-16_2206-15del | ENSP00000345771.6:n.2206-16_2206-15del | |
| ENST00000359794.9:c.1993-16_1993-15del | ENSP00000352842.5:n.1993-16_1993-15del | |
| ENST00000546964.5:n.2317-16_2317-15del | ||
| ENST00000547581.5:c.*2261-16_*2261-15del | ENSP00000447992.1:n.*2261-16_*2261-15del | |
| ENST00000547587.5:c.1993-16_1993-15del | ENSP00000449426.1:n.1993-16_1993-15del | |
| ENST00000551804.5:c.1900-16_1900-15del | ENSP00000448177.1:n.1900-16_1900-15del | |
| ENST00000553055.1:c.269-16_269-15del | ||
| NM_000289.5:c.1993-16_1993-15del | NP_000280.1:n.1993-16_1993-15del | |
| NM_001166686.1:c.2206-16_2206-15del | NP_001160158.1:n.2206-16_2206-15del | |
| NM_001166687.1:c.1993-16_1993-15del | NP_001160159.1:n.1993-16_1993-15del | |
| NM_001166688.1:c.1993-16_1993-15del | NP_001160160.1:n.1993-16_1993-15del | |
| XM_005268974.1:c.2302-16_2302-15del | XP_005269031.1:n.2302-16_2302-15del | |
| XM_005268975.1:c.2302-16_2302-15del | XP_005269032.1:n.2302-16_2302-15del | |
| XM_005268976.2:c.2302-16_2302-15del | XP_005269033.1:n.2302-16_2302-15del | |
| XM_005268977.1:c.2206-16_2206-15del | XP_005269034.1:n.2206-16_2206-15del | |
| XM_005268978.2:c.2206-16_2206-15del | XP_005269035.1:n.2206-16_2206-15del | |
| XM_005268979.1:c.2206-16_2206-15del | XP_005269036.1:n.2206-16_2206-15del | |
| XM_011538487.1:c.2209-16_2209-15del | XP_011536789.1:n.2209-16_2209-15del | |
| XM_011538488.1:c.1993-16_1993-15del | XP_011536790.1:n.1993-16_1993-15del | |
| NM_000289.6:c.1993-16_1993-15del MANE Select | NP_000280.1:n.1993-16_1993-15del | |
| NM_001166686.2:c.2206-16_2206-15del | NP_001160158.1:n.2206-16_2206-15del | |
| NM_001354735.1:c.2302-16_2302-15del | NP_001341664.1:n.2302-16_2302-15del | |
| NM_001354736.1:c.2302-16_2302-15del | NP_001341665.1:n.2302-16_2302-15del | |
| NM_001354737.1:c.2206-16_2206-15del | NP_001341666.1:n.2206-16_2206-15del | |
| NM_001354738.1:c.2206-16_2206-15del | NP_001341667.1:n.2206-16_2206-15del | |
| NM_001354739.1:c.2206-16_2206-15del | NP_001341668.1:n.2206-16_2206-15del | |
| NM_001354740.1:c.2137-16_2137-15del | NP_001341669.1:n.2137-16_2137-15del | |
| NM_001354741.1:c.2017-16_2017-15del | NP_001341670.1:n.2017-16_2017-15del | |
| NM_001354742.1:c.1993-16_1993-15del | NP_001341671.1:n.1993-16_1993-15del | |
| NM_001354743.1:c.1993-16_1993-15del | NP_001341672.1:n.1993-16_1993-15del | |
| NM_001354744.1:c.1993-16_1993-15del | NP_001341673.1:n.1993-16_1993-15del | |
| NM_001354745.1:c.1906-16_1906-15del | NP_001341674.1:n.1906-16_1906-15del | |
| NM_001354746.1:c.1867-16_1867-15del | NP_001341675.1:n.1867-16_1867-15del | |
| NM_001354747.1:c.1843-16_1843-15del | NP_001341676.1:n.1843-16_1843-15del | |
| NM_001354748.1:c.1843-16_1843-15del | NP_001341677.1:n.1843-16_1843-15del | |
| NM_001363619.1:c.1900-16_1900-15del | NP_001350548.1:n.1900-16_1900-15del | |
| NR_148954.1:n.2430-16_2430-15del | ||
| NR_148955.1:n.3066-16_3066-15del | ||
| NR_148956.1:n.2356-16_2356-15del | ||
| NR_148957.1:n.2585-16_2585-15del | ||
| NR_148958.1:n.2333-16_2333-15del | ||
| NR_148959.1:n.2259-16_2259-15del | ||
| XM_005268976.3:c.2302-16_2302-15del | XP_005269033.1:n.2302-16_2302-15del | |
| XM_017019469.1:c.2113-16_2113-15del | XP_016874958.1:n.2113-16_2113-15del | |
| XM_024449020.1:c.2215-16_2215-15del | XP_024304788.1:n.2215-16_2215-15del | |
| XM_024449021.1:c.2092-16_2092-15del | XP_024304789.1:n.2092-16_2092-15del | |
| XM_024449022.1:c.1993-16_1993-15del | XP_024304790.1:n.1993-16_1993-15del | |
| NM_001166687.2:c.1993-16_1993-15del | NP_001160159.1:n.1993-16_1993-15del | |
| NM_001166688.2:c.1993-16_1993-15del | NP_001160160.1:n.1993-16_1993-15del | |
| NM_001354741.2:c.2017-16_2017-15del | NP_001341670.1:n.2017-16_2017-15del | |
| NM_001354742.2:c.1993-16_1993-15del | NP_001341671.1:n.1993-16_1993-15del | |
| NM_001354743.2:c.1993-16_1993-15del | NP_001341672.1:n.1993-16_1993-15del | |
| NM_001354744.2:c.1993-16_1993-15del | NP_001341673.1:n.1993-16_1993-15del | |
| NM_001354745.2:c.1906-16_1906-15del | NP_001341674.1:n.1906-16_1906-15del | |
| NM_001354746.2:c.1867-16_1867-15del | NP_001341675.1:n.1867-16_1867-15del | |
| NM_001354747.2:c.1843-16_1843-15del | NP_001341676.1:n.1843-16_1843-15del | |
| NM_001354748.2:c.1843-16_1843-15del | NP_001341677.1:n.1843-16_1843-15del | |
| NM_001363619.2:c.1900-16_1900-15del | NP_001350548.1:n.1900-16_1900-15del | |
| NR_148954.2:n.2296-16_2296-15del | ||
| NR_148956.2:n.2222-16_2222-15del | ||
| NR_148957.2:n.2451-16_2451-15del | ||
| NR_148958.2:n.2199-16_2199-15del | ||
| NR_148959.2:n.2125-16_2125-15del |