Canonical Allele Identifier: CA2797414238

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556894_109556904del , CM000674.2:g.109556894_109556904del	GRCh38
NC_000012.11:g.109994699_109994709del , CM000674.1:g.109994699_109994709del	GRCh37
NC_000012.10:g.108479082_108479092del	NCBI36
NG_007096.1:g.21594_21604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*124_*134del MANE Select	ENSP00000445920.1:n.*124_*134del
ENST00000537496.5:c.*442_*452del	ENSP00000444793.1:n.*442_*452del
ENST00000540016.5:c.*124_*134del	ENSP00000474582.1:n.*124_*134del
ENST00000541763.6:c.1102_1112del	ENSP00000474981.1:n.1102_1112del
ENST00000544051.5:c.*758_*768del	ENSP00000438079.1:n.*758_*768del
ENST00000545712.6:c.*124_*134del	ENSP00000445920.1:n.*124_*134del
NM_052845.3:c.*124_*134del	NP_443077.1:n.*124_*134del
NR_038118.1:n.1037_1047del
XM_011538266.1:c.*224_*234del	XP_011536568.1:n.*224_*234del
XM_011538267.1:c.*224_*234del	XP_011536569.1:n.*224_*234del
XM_011538268.1:c.*124_*134del	XP_011536570.1:n.*124_*134del
XM_011538269.1:c.*124_*134del	XP_011536571.1:n.*124_*134del
XM_011538267.3:c.*224_*234del	XP_011536569.1:n.*224_*234del
XM_011538268.2:c.*124_*134del	XP_011536570.1:n.*124_*134del
XM_011538269.2:c.*124_*134del	XP_011536571.1:n.*124_*134del
NM_052845.4:c.*124_*134del MANE Select	NP_443077.1:n.*124_*134del
NR_038118.2:n.988_998del