Canonical Allele Identifier: CA2062443966

Gene: MMAB

Linked Data

• dbSNP Id: rs1884003770

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557026_109557042del , CM000674.2:g.109557026_109557042del	GRCh38
NC_000012.11:g.109994831_109994847del , CM000674.1:g.109994831_109994847del	GRCh37
NC_000012.10:g.108479214_108479230del	NCBI36
NG_007096.1:g.21458_21474del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.741_*4del MANE Select	ENSP00000445920.1:n.[c.741_*4del;Glu248GlnfsTer?]
ENST00000537496.5:c.*306_*322del	ENSP00000444793.1:n.*306_*322del
ENST00000540016.5:c.585_*4del	ENSP00000474582.1:n.[c.585_*4del;Glu196GlnfsTer?]
ENST00000541763.6:c.966_982del	ENSP00000474981.1:n.966_982del
ENST00000544051.5:c.*622_*638del	ENSP00000438079.1:n.*622_*638del
ENST00000545712.6:c.741_*4del	ENSP00000445920.1:n.[c.741_*4del;Glu248GlnfsTer?]
NM_052845.3:c.741_*4del	NP_443077.1:n.[c.741_*4del;Glu248GlnfsTer?]
NR_038118.1:n.901_917del
XM_011538266.1:c.*88_*104del	XP_011536568.1:n.*88_*104del
XM_011538267.1:c.*88_*104del	XP_011536569.1:n.*88_*104del
XM_011538268.1:c.468_*4del	XP_011536570.1:n.[c.468_*4del;Glu157GlnfsTer?]
XM_011538269.1:c.465_*4del	XP_011536571.1:n.[c.465_*4del;Glu156GlnfsTer?]
XM_011538267.3:c.*88_*104del	XP_011536569.1:n.*88_*104del
XM_011538268.2:c.468_*4del	XP_011536570.1:n.[c.468_*4del;Glu157GlnfsTer?]
XM_011538269.2:c.465_*4del	XP_011536571.1:n.[c.465_*4del;Glu156GlnfsTer?]
NM_052845.4:c.741_*4del MANE Select	NP_443077.1:n.[c.741_*4del;Glu248GlnfsTer?]
NR_038118.2:n.852_868del