Linked Data
dbSNP Id:
rs1044338934
gnomAD v3:
4-76188965-ACTAAGTC-A
gnomAD v4:
4-76188965-ACTAAGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76188969_76188975del , CM000666.2:g.76188969_76188975del | GRCh38 |
| NC_000004.11:g.77110122_77110128del , CM000666.1:g.77110122_77110128del | GRCh37 |
| NC_000004.10:g.77329146_77329152del | NCBI36 |
| NG_012054.1:g.29911_29917del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682785.1:n.251+6735_251+6741del | ||
| ENST00000264896.8:c.275+6735_275+6741del MANE Select | ENSP00000264896.2:n.275+6735_275+6741del | |
| ENST00000502908.2:n.528+6735_528+6741del | ||
| ENST00000509994.2:c.276-4192_276-4186del | ENSP00000420988.1:n.276-4192_276-4186del | |
| ENST00000638295.1:c.-200+6735_-200+6741del | ENSP00000492288.1:n.-200+6735_-200+6741del | |
| ENST00000638372.1:n.527+6735_527+6741del | ||
| ENST00000638603.1:c.275+6735_275+6741del | ENSP00000491728.1:n.275+6735_275+6741del | |
| ENST00000638663.1:c.275+6735_275+6741del | ENSP00000491407.1:n.275+6735_275+6741del | |
| ENST00000638680.1:n.608+6735_608+6741del | ||
| ENST00000639145.1:c.275+6735_275+6741del | ENSP00000492831.1:n.275+6735_275+6741del | |
| ENST00000639300.1:c.275+6735_275+6741del | ENSP00000492840.1:n.275+6735_275+6741del | |
| ENST00000639324.1:n.374+6735_374+6741del | ||
| ENST00000639715.1:c.240+6735_240+6741del | ||
| ENST00000639738.1:c.275+6735_275+6741del | ENSP00000491792.1:n.275+6735_275+6741del | |
| ENST00000640341.1:c.275+6735_275+6741del | ENSP00000492714.1:n.275+6735_275+6741del | |
| ENST00000640634.1:c.252+6735_252+6741del | ||
| ENST00000640640.1:c.275+6735_275+6741del | ENSP00000492246.1:n.275+6735_275+6741del | |
| ENST00000640916.1:n.203+6735_203+6741del | ||
| ENST00000640957.1:c.275+6735_275+6741del | ENSP00000492004.1:n.275+6735_275+6741del | |
| ENST00000264896.6:c.275+6735_275+6741del | ENSP00000264896.2:n.275+6735_275+6741del | |
| ENST00000452464.6:c.275+6735_275+6741del | ENSP00000399154.2:n.275+6735_275+6741del | |
| ENST00000502908.1:n.139+6735_139+6741del | ||
| ENST00000509994.1:c.276-4192_276-4186del | ENSP00000420988.1:n.276-4192_276-4186del | |
| NM_001204255.1:c.275+6735_275+6741del | NP_001191184.1:n.275+6735_275+6741del | |
| NM_005506.3:c.275+6735_275+6741del | NP_005497.1:n.275+6735_275+6741del | |
| NM_005506.4:c.275+6735_275+6741del MANE Select | NP_005497.1:n.275+6735_275+6741del | |
| NM_001204255.2:c.275+6735_275+6741del | NP_001191184.1:n.275+6735_275+6741del |