Canonical Allele Identifier: CA2620808987

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560957-GTCCTCCTCTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560959_109561009del , CM000674.2:g.109560959_109561009del	GRCh38
NC_000012.11:g.109998764_109998814del , CM000674.1:g.109998764_109998814del	GRCh37
NC_000012.10:g.108483147_108483197del	NCBI36
NG_007096.1:g.17490_17540del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+32_584+82del MANE Select	ENSP00000445920.1:n.584+32_584+82del
ENST00000537496.5:c.*149+32_*149+82del	ENSP00000444793.1:n.*149+32_*149+82del
ENST00000540016.5:c.428+32_428+82del	ENSP00000474582.1:n.428+32_428+82del
ENST00000541763.6:c.809+32_809+82del	ENSP00000474981.1:n.809+32_809+82del
ENST00000544051.5:c.*465+32_*465+82del	ENSP00000438079.1:n.*465+32_*465+82del
ENST00000545712.6:c.584+32_584+82del	ENSP00000445920.1:n.584+32_584+82del
NM_052845.3:c.584+32_584+82del	NP_443077.1:n.584+32_584+82del
NR_038118.1:n.744+32_744+82del
XM_011538266.1:c.429+32_429+82del	XP_011536568.1:n.429+32_429+82del
XM_011538267.1:c.429+32_429+82del	XP_011536569.1:n.429+32_429+82del
XM_011538268.1:c.311+32_311+82del	XP_011536570.1:n.311+32_311+82del
XM_011538269.1:c.308+32_308+82del	XP_011536571.1:n.308+32_308+82del
XM_011538267.3:c.429+32_429+82del	XP_011536569.1:n.429+32_429+82del
XM_011538268.2:c.311+32_311+82del	XP_011536570.1:n.311+32_311+82del
XM_011538269.2:c.308+32_308+82del	XP_011536571.1:n.308+32_308+82del
XM_024448961.1:c.584+32_584+82del	XP_024304729.1:n.584+32_584+82del
NM_052845.4:c.584+32_584+82del MANE Select	NP_443077.1:n.584+32_584+82del
NR_038118.2:n.695+32_695+82del