Canonical Allele Identifier: CA2620810708

Gene: MMAB

Linked Data

• gnomAD v4: 12-109561205-GTGTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561206_109561209del , CM000674.2:g.109561206_109561209del	GRCh38
NC_000012.11:g.109999011_109999014del , CM000674.1:g.109999011_109999014del	GRCh37
NC_000012.10:g.108483394_108483397del	NCBI36
NG_007096.1:g.17289_17292del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-105_520-102del MANE Select	ENSP00000445920.1:n.520-105_520-102del
ENST00000537496.5:c.*84+34_*84+37del	ENSP00000444793.1:n.*84+34_*84+37del
ENST00000540016.5:c.364-105_364-102del	ENSP00000474582.1:n.364-105_364-102del
ENST00000541763.6:c.640_643del	ENSP00000474981.1:n.640_643del
ENST00000544051.5:c.*400+34_*400+37del	ENSP00000438079.1:n.*400+34_*400+37del
ENST00000545712.6:c.520-105_520-102del	ENSP00000445920.1:n.520-105_520-102del
NM_052845.3:c.520-105_520-102del	NP_443077.1:n.520-105_520-102del
NR_038118.1:n.679+34_679+37del
XM_011538266.1:c.364+34_364+37del	XP_011536568.1:n.364+34_364+37del
XM_011538267.1:c.364+34_364+37del	XP_011536569.1:n.364+34_364+37del
XM_011538268.1:c.247-105_247-102del	XP_011536570.1:n.247-105_247-102del
XM_011538269.1:c.244-105_244-102del	XP_011536571.1:n.244-105_244-102del
XM_011538267.3:c.364+34_364+37del	XP_011536569.1:n.364+34_364+37del
XM_011538268.2:c.247-105_247-102del	XP_011536570.1:n.247-105_247-102del
XM_011538269.2:c.244-105_244-102del	XP_011536571.1:n.244-105_244-102del
XM_024448961.1:c.520-105_520-102del	XP_024304729.1:n.520-105_520-102del
NM_052845.4:c.520-105_520-102del MANE Select	NP_443077.1:n.520-105_520-102del
NR_038118.2:n.630+34_630+37del