ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177212058_177212059del , CM000667.2:g.177212058_177212059del | GRCh38 |
| NC_000005.9:g.176639059_176639060del , CM000667.1:g.176639059_176639060del | GRCh37 |
| NC_000005.8:g.176571665_176571666del | NCBI36 |
| NG_009821.1:g.83980_83981del , LRG_512:g.83980_83981del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.2786_2787del | ENSP00000423372.3:p.Glu929AlafsTer5 | |
| ENST00000347982.9:c.2786_2787del | ENSP00000343209.5:p.Glu929AlafsTer5 | |
| ENST00000354179.9:c.2786_2787del | ENSP00000346111.5:p.Glu929AlafsTer5 | |
| ENST00000510954.6:n.612+7766_612+7767del | ||
| ENST00000685206.1:n.3242_3243del | ||
| ENST00000686993.1:c.2786_2787del | ENSP00000510020.1:p.Glu929AlafsTer5 | |
| ENST00000687453.1:c.3350_3351del | ENSP00000508426.1:p.Glu1117AlafsTer5 | |
| ENST00000688613.1:n.3056_3057del | ||
| ENST00000689326.1:c.3659_3660del | ENSP00000509594.1:p.Glu1220AlafsTer5 | |
| ENST00000689345.1:c.2786_2787del | ENSP00000509711.1:p.Glu929AlafsTer5 | |
| ENST00000689549.1:n.3806_3807del | ||
| ENST00000439151.7:c.3659_3660del MANE Select | ENSP00000395929.2:p.Glu1220AlafsTer5 | |
| ENST00000347982.8:c.2852_2853del | ENSP00000343209.4:p.Glu951AlafsTer5 | |
| ENST00000354179.8:c.2852_2853del | ENSP00000346111.4:p.Glu951AlafsTer5 | |
| ENST00000439151.6:c.3659_3660del | ENSP00000395929.2:p.Glu1220AlafsTer5 | |
| NM_022455.4:c.3659_3660del , LRG_512t1:c.3659_3660del | NP_071900.2:p.Glu1220AlafsTer5 | |
| NM_172349.2:c.2852_2853del | NP_758859.1:p.Glu951AlafsTer5 | |
| XM_005265959.1:c.3659_3660del | XP_005266016.1:p.Glu1220AlafsTer5 | |
| XM_005265960.1:c.2852_2853del | XP_005266017.1:p.Glu951AlafsTer5 | |
| XM_005265961.1:c.2852_2853del | XP_005266018.1:p.Glu951AlafsTer5 | |
| XM_011534610.1:c.3659_3660del | XP_011532912.1:p.Glu1220AlafsTer5 | |
| XM_011534611.1:c.3659_3660del | XP_011532913.1:p.Glu1220AlafsTer5 | |
| XM_011534612.1:c.3239_3240del | XP_011532914.1:p.Glu1080AlafsTer5 | |
| XM_011534613.1:c.2603_2604del | XP_011532915.1:p.Glu868AlafsTer5 | |
| XM_011534614.1:c.3659_3660del | XP_011532916.1:p.Glu1220AlafsTer5 | |
| XM_011534615.1:c.3659_3660del | XP_011532917.1:p.Glu1220AlafsTer5 | |
| XM_011534616.1:c.3659_3660del | XP_011532918.1:p.Glu1220AlafsTer5 | |
| NM_001365684.1:c.2852_2853del | NP_001352613.1:p.Glu951AlafsTer5 | |
| XM_024446150.1:c.3659_3660del | XP_024301918.1:p.Glu1220AlafsTer5 | |
| XM_024446151.1:c.3659_3660del | XP_024301919.1:p.Glu1220AlafsTer5 | |
| XM_024446152.1:c.3659_3660del | XP_024301920.1:p.Glu1220AlafsTer5 | |
| XM_024446153.1:c.3659_3660del | XP_024301921.1:p.Glu1220AlafsTer5 | |
| XM_024446154.1:c.3239_3240del | XP_024301922.1:p.Glu1080AlafsTer5 | |
| XM_024446155.1:c.2852_2853del | XP_024301923.1:p.Glu951AlafsTer5 | |
| XM_024446156.1:c.2852_2853del | XP_024301924.1:p.Glu951AlafsTer5 | |
| XM_024446158.1:c.2852_2853del | XP_024301926.1:p.Glu951AlafsTer5 | |
| XM_024446159.1:c.2603_2604del | XP_024301927.1:p.Glu868AlafsTer5 | |
| XM_024446160.1:c.3659_3660del | XP_024301928.1:p.Glu1220AlafsTer5 | |
| XM_024446161.1:c.3659_3660del | XP_024301929.1:p.Glu1220AlafsTer5 | |
| XM_024446162.1:c.-337_-336del | XP_024301930.1:n.-337_-336del | |
| NM_022455.5:c.3659_3660del MANE Select | NP_071900.2:p.Glu1220AlafsTer5 | |
| NM_172349.3:c.2852_2853del | NP_758859.1:p.Glu951AlafsTer5 |