Linked Data
ClinVar Variation Id:
1618027
ClinVar RCV Id:
RCV002079660
dbSNP Id:
rs1491006440
gnomAD v2:
17-29684273-TTG-T
gnomAD v3:
17-31357255-TTG-T
gnomAD v4:
17-31357255-TTG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31357256_31357257del , CM000679.2:g.31357256_31357257del | GRCh38 |
| NC_000017.10:g.29684274_29684275del , CM000679.1:g.29684274_29684275del | GRCh37 |
| NC_000017.9:g.26708400_26708401del | NCBI36 |
| NG_009018.1:g.267280_267281del , LRG_214:g.267280_267281del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7852-13_7852-12del | ENSP00000512431.1:n.7852-13_7852-12del | |
| ENST00000684826.1:c.2434-13_2434-12del | ENSP00000509994.1:n.2434-13_2434-12del | |
| ENST00000687027.1:c.2026-13_2026-12del | ENSP00000508715.1:n.2026-13_2026-12del | |
| ENST00000687863.1:n.4515-13_4515-12del | ||
| ENST00000689464.1:c.920-13_920-12del | ||
| ENST00000691014.1:c.7900-13_7900-12del | ENSP00000510595.1:n.7900-13_7900-12del | |
| ENST00000693617.1:c.2434-13_2434-12del | ENSP00000510031.1:n.2434-13_2434-12del | |
| ENST00000358273.9:c.7870-13_7870-12del MANE Select | ENSP00000351015.4:n.7870-13_7870-12del | |
| ENST00000356175.7:c.7807-13_7807-12del | ENSP00000348498.3:n.7807-13_7807-12del | |
| ENST00000358273.8:c.7870-13_7870-12del | ENSP00000351015.4:n.7870-13_7870-12del | |
| ENST00000456735.6:c.6805-13_6805-12del | ENSP00000389907.2:n.6805-13_6805-12del | |
| ENST00000471572.6:c.1253-13_1253-12del | ||
| ENST00000577967.1:n.1453_1454del | ||
| ENST00000579081.5:c.8006-13_8006-12del | ENSP00000462408.1:n.8006-13_8006-12del | |
| ENST00000581790.5:c.855-13_855-12del | ||
| NM_000267.3:c.7807-13_7807-12del , LRG_214t1:c.7807-13_7807-12del | NP_000258.1:n.7807-13_7807-12del | |
| NM_001042492.2:c.7870-13_7870-12del , LRG_214t2:c.7870-13_7870-12del | NP_001035957.1:n.7870-13_7870-12del | |
| XM_005257983.1:c.7870-13_7870-12del | XP_005258040.1:n.7870-13_7870-12del | |
| XM_005257984.1:c.7807-13_7807-12del | XP_005258041.1:n.7807-13_7807-12del | |
| XM_006721922.1:c.7900-13_7900-12del | XP_006721985.1:n.7900-13_7900-12del | |
| XM_006721923.2:c.7861-13_7861-12del | XP_006721986.1:n.7861-13_7861-12del | |
| XM_006721924.1:c.7900-13_7900-12del | XP_006721987.1:n.7900-13_7900-12del | |
| XM_006721925.1:c.7837-13_7837-12del | XP_006721988.1:n.7837-13_7837-12del | |
| XM_006721926.2:c.7900-13_7900-12del | XP_006721989.1:n.7900-13_7900-12del | |
| XM_006721927.1:c.7900-13_7900-12del | XP_006721990.1:n.7900-13_7900-12del | |
| XM_011524852.1:c.7897-13_7897-12del | XP_011523154.1:n.7897-13_7897-12del | |
| XM_011524853.1:c.7861-13_7861-12del | XP_011523155.1:n.7861-13_7861-12del | |
| XM_011524854.1:c.7861-13_7861-12del | XP_011523156.1:n.7861-13_7861-12del | |
| XM_011524855.1:c.7861-13_7861-12del | XP_011523157.1:n.7861-13_7861-12del | |
| XM_011524856.1:c.7861-13_7861-12del | XP_011523158.1:n.7861-13_7861-12del | |
| XM_011524857.1:c.7777-13_7777-12del | XP_011523159.1:n.7777-13_7777-12del | |
| NM_001042492.3:c.7870-13_7870-12del MANE Select | NP_001035957.1:n.7870-13_7870-12del |