Canonical Allele Identifier: CA2620808953

Gene: MMAB

Linked Data

• gnomAD v4: 12-109560948-CCCATCTCCGTCCTCCTCTCCCTCTCCCTCCCCCCTCCCCCTTGTTCCTCTCCCTCTCCCTTGGGCCCTCTCCCTCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109560952_109561029del , CM000674.2:g.109560952_109561029del	GRCh38
NC_000012.11:g.109998757_109998834del , CM000674.1:g.109998757_109998834del	GRCh37
NC_000012.10:g.108483140_108483217del	NCBI36
NG_007096.1:g.17472_17549del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.584+14_584+91del MANE Select	ENSP00000445920.1:n.584+14_584+91del
ENST00000537496.5:c.*149+14_*149+91del	ENSP00000444793.1:n.*149+14_*149+91del
ENST00000540016.5:c.428+14_428+91del	ENSP00000474582.1:n.428+14_428+91del
ENST00000541763.6:c.809+14_809+91del	ENSP00000474981.1:n.809+14_809+91del
ENST00000544051.5:c.*465+14_*465+91del	ENSP00000438079.1:n.*465+14_*465+91del
ENST00000545712.6:c.584+14_584+91del	ENSP00000445920.1:n.584+14_584+91del
NM_052845.3:c.584+14_584+91del	NP_443077.1:n.584+14_584+91del
NR_038118.1:n.744+14_744+91del
XM_011538266.1:c.429+14_429+91del	XP_011536568.1:n.429+14_429+91del
XM_011538267.1:c.429+14_429+91del	XP_011536569.1:n.429+14_429+91del
XM_011538268.1:c.311+14_311+91del	XP_011536570.1:n.311+14_311+91del
XM_011538269.1:c.308+14_308+91del	XP_011536571.1:n.308+14_308+91del
XM_011538267.3:c.429+14_429+91del	XP_011536569.1:n.429+14_429+91del
XM_011538268.2:c.311+14_311+91del	XP_011536570.1:n.311+14_311+91del
XM_011538269.2:c.308+14_308+91del	XP_011536571.1:n.308+14_308+91del
XM_024448961.1:c.584+14_584+91del	XP_024304729.1:n.584+14_584+91del
NM_052845.4:c.584+14_584+91del MANE Select	NP_443077.1:n.584+14_584+91del
NR_038118.2:n.695+14_695+91del