Canonical Allele Identifier: CA951701360

Gene: MMAB

Linked Data

• gnomAD v3: 12-109560961-TCCTCTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCTTGGGC-T
• gnomAD v4: 12-109560961-TCCTCTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCTTGGGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560974_109561025del , CM000674.2:g.109560974_109561025del	GRCh38
NC_000012.11:g.109998779_109998830del , CM000674.1:g.109998779_109998830del	GRCh37
NC_000012.10:g.108483162_108483213del	NCBI36
NG_007096.1:g.17485_17536del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+27_584+78del MANE Select	ENSP00000445920.1:n.584+27_584+78del
ENST00000537496.5:c.*149+27_*149+78del	ENSP00000444793.1:n.*149+27_*149+78del
ENST00000540016.5:c.428+27_428+78del	ENSP00000474582.1:n.428+27_428+78del
ENST00000541763.6:c.809+27_809+78del	ENSP00000474981.1:n.809+27_809+78del
ENST00000544051.5:c.*465+27_*465+78del	ENSP00000438079.1:n.*465+27_*465+78del
ENST00000545712.6:c.584+27_584+78del	ENSP00000445920.1:n.584+27_584+78del
NM_052845.3:c.584+27_584+78del	NP_443077.1:n.584+27_584+78del
NR_038118.1:n.744+27_744+78del
XM_011538266.1:c.429+27_429+78del	XP_011536568.1:n.429+27_429+78del
XM_011538267.1:c.429+27_429+78del	XP_011536569.1:n.429+27_429+78del
XM_011538268.1:c.311+27_311+78del	XP_011536570.1:n.311+27_311+78del
XM_011538269.1:c.308+27_308+78del	XP_011536571.1:n.308+27_308+78del
XM_011538267.3:c.429+27_429+78del	XP_011536569.1:n.429+27_429+78del
XM_011538268.2:c.311+27_311+78del	XP_011536570.1:n.311+27_311+78del
XM_011538269.2:c.308+27_308+78del	XP_011536571.1:n.308+27_308+78del
XM_024448961.1:c.584+27_584+78del	XP_024304729.1:n.584+27_584+78del
NM_052845.4:c.584+27_584+78del MANE Select	NP_443077.1:n.584+27_584+78del
NR_038118.2:n.695+27_695+78del