Canonical Allele Identifier: CA386636765

Gene: MMAB

Linked Data

• dbSNP Id: rs1555274461
• gnomAD v3: 12-109560976-TC-T
• gnomAD v4: 12-109560976-TC-T
• COSMIC: COSN22846373
• MyVariant Identifiers: chr12:g.109998782del (hg19) ; chr12:g.109560978del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560982del , CM000674.2:g.109560982del	GRCh38
NC_000012.11:g.109998787del , CM000674.1:g.109998787del	GRCh37
NC_000012.10:g.108483170del	NCBI36
NG_007096.1:g.17521del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.584+63del MANE Select	ENSP00000445920.1:n.584+63del
ENST00000537496.5:c.*149+63del	ENSP00000444793.1:n.*149+63del
ENST00000540016.5:c.428+63del	ENSP00000474582.1:n.428+63del
ENST00000541763.6:c.809+63del	ENSP00000474981.1:n.809+63del
ENST00000544051.5:c.*465+63del	ENSP00000438079.1:n.*465+63del
ENST00000545712.6:c.584+63del	ENSP00000445920.1:n.584+63del
NM_052845.3:c.584+63del	NP_443077.1:n.584+63del
NR_038118.1:n.744+63del
XM_011538266.1:c.429+63del	XP_011536568.1:n.429+63del
XM_011538267.1:c.429+63del	XP_011536569.1:n.429+63del
XM_011538268.1:c.311+63del	XP_011536570.1:n.311+63del
XM_011538269.1:c.308+63del	XP_011536571.1:n.308+63del
XM_011538267.3:c.429+63del	XP_011536569.1:n.429+63del
XM_011538268.2:c.311+63del	XP_011536570.1:n.311+63del
XM_011538269.2:c.308+63del	XP_011536571.1:n.308+63del
XM_024448961.1:c.584+63del	XP_024304729.1:n.584+63del
NM_052845.4:c.584+63del MANE Select	NP_443077.1:n.584+63del
NR_038118.2:n.695+63del