Linked Data
dbSNP Id:
rs2043587821
gnomAD v3:
10-68195414-TTCTTGTTTTAATCTTGC-T
gnomAD v4:
10-68195414-TTCTTGTTTTAATCTTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195419_68195435del , CM000672.2:g.68195419_68195435del | GRCh38 |
| NC_000010.10:g.69955176_69955192del , CM000672.1:g.69955176_69955192del | GRCh37 |
| NC_000010.9:g.69625182_69625198del | NCBI36 |
| NG_032118.1:g.94303_94319del , LRG_410:g.94303_94319del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.2251-31_2251-15del | ENSP00000346369.2:n.2251-31_2251-15del | |
| ENST00000540630.6:c.3130-31_3130-15del | ENSP00000441668.3:n.3130-31_3130-15del | |
| ENST00000613327.5:c.3076-31_3076-15del | ENSP00000480757.2:n.3076-31_3076-15del | |
| ENST00000688812.1:c.*339-31_*339-15del | ENSP00000510658.1:n.*339-31_*339-15del | |
| ENST00000690544.1:c.*2347-31_*2347-15del | ENSP00000508989.1:n.*2347-31_*2347-15del | |
| ENST00000358913.10:c.3076-31_3076-15del MANE Select | ENSP00000351790.5:n.3076-31_3076-15del | |
| ENST00000354393.6:c.2251-31_2251-15del | ENSP00000346369.2:n.2251-31_2251-15del | |
| ENST00000358913.9:c.3076-31_3076-15del | ENSP00000351790.5:n.3076-31_3076-15del | |
| ENST00000540630.5:c.3076-31_3076-15del | ENSP00000441668.2:n.3076-31_3076-15del | |
| ENST00000613327.4:c.2194-31_2194-15del | ENSP00000480757.1:n.2194-31_2194-15del | |
| NM_001256267.1:c.3076-31_3076-15del | NP_001243196.1:n.3076-31_3076-15del | |
| NM_001256268.1:c.2194-31_2194-15del | NP_001243197.1:n.2194-31_2194-15del | |
| NM_032578.3:c.3076-31_3076-15del , LRG_410t1:c.3076-31_3076-15del | NP_115967.2:n.3076-31_3076-15del | |
| NR_045662.3:n.2503-31_2503-15del | ||
| NR_045663.3:n.3205-31_3205-15del | ||
| XM_006718043.2:c.3130-31_3130-15del | XP_006718106.1:n.3130-31_3130-15del | |
| XM_011540292.1:c.3106-31_3106-15del | XP_011538594.1:n.3106-31_3106-15del | |
| XM_017016833.1:c.3154-31_3154-15del | XP_016872322.1:n.3154-31_3154-15del | |
| XM_017016834.2:c.3076-31_3076-15del | XP_016872323.1:n.3076-31_3076-15del | |
| XM_024448236.1:c.1954-31_1954-15del | XP_024304004.1:n.1954-31_1954-15del | |
| NR_045662.4:n.2613-31_2613-15del | ||
| NR_045663.4:n.3150-31_3150-15del | ||
| NM_001256267.2:c.3076-31_3076-15del | NP_001243196.1:n.3076-31_3076-15del | |
| NM_001256268.2:c.2194-31_2194-15del | NP_001243197.1:n.2194-31_2194-15del | |
| NM_032578.4:c.3076-31_3076-15del MANE Select | NP_115967.2:n.3076-31_3076-15del |