Canonical Allele Identifier: CA522805004

Gene: ERMAP

Linked Data

• dbSNP Id: rs1557608299
• gnomAD v2: 1-43296425-CTTTT-C
• gnomAD v4: 1-42830754-CTTTT-C
• MyVariant Identifiers: chr1:g.43296426_43296429del (hg19) ; chr1:g.42830755_42830758del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830758_42830761del , CM000663.2:g.42830758_42830761del	GRCh38
NC_000001.10:g.43296429_43296432del , CM000663.1:g.43296429_43296432del	GRCh37
NC_000001.9:g.43069016_43069019del	NCBI36
NG_008749.1:g.18654_18657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.86-10_86-7del MANE Select	ENSP00000361595.2:n.86-10_86-7del
ENST00000487556.6:n.452-4280_452-4277del
ENST00000642150.1:n.273-10_273-7del
ENST00000643061.1:n.563_566del
ENST00000647120.1:n.248-4280_248-4277del
ENST00000328249.3:c.-195_-192del	ENSP00000332439.3:n.-195_-192del
ENST00000372514.7:c.86-10_86-7del	ENSP00000361592.3:n.86-10_86-7del
ENST00000372517.6:c.86-10_86-7del	ENSP00000361595.2:n.86-10_86-7del
ENST00000487556.5:n.247-4280_247-4277del
NM_001017922.1:c.86-10_86-7del	NP_001017922.1:n.86-10_86-7del
NM_018538.3:c.86-10_86-7del	NP_061008.2:n.86-10_86-7del
XM_006710313.2:c.86-10_86-7del	XP_006710376.1:n.86-10_86-7del
XM_011540570.1:c.86-10_86-7del	XP_011538872.1:n.86-10_86-7del
XM_011540571.1:c.86-10_86-7del	XP_011538873.1:n.86-10_86-7del
XM_006710313.4:c.86-10_86-7del	XP_006710376.1:n.86-10_86-7del
XM_011540570.3:c.86-10_86-7del	XP_011538872.1:n.86-10_86-7del
XM_011540571.3:c.86-10_86-7del	XP_011538873.1:n.86-10_86-7del
NM_001017922.2:c.86-10_86-7del MANE Select	NP_001017922.1:n.86-10_86-7del
NM_018538.4:c.86-10_86-7del	NP_061008.2:n.86-10_86-7del