Canonical Allele Identifier: CA522805002

Gene: ERMAP

Linked Data

• dbSNP Id: rs1228789276
• gnomAD v2: 1-43296407-TC-T
• gnomAD v3: 1-42830736-TC-T
• gnomAD v4: 1-42830736-TC-T
• MyVariant Identifiers: chr1:g.43296408del (hg19) ; chr1:g.42830737del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42830739del , CM000663.2:g.42830739del	GRCh38
NC_000001.10:g.43296410del , CM000663.1:g.43296410del	GRCh37
NC_000001.9:g.43068997del	NCBI36
NG_008749.1:g.18635del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372517.8:c.86-29del MANE Select	ENSP00000361595.2:n.86-29del
ENST00000487556.6:n.452-4299del
ENST00000642150.1:n.273-29del
ENST00000643061.1:n.544del
ENST00000647120.1:n.248-4299del
ENST00000328249.3:c.-214del	ENSP00000332439.3:n.-214del
ENST00000372514.7:c.86-29del	ENSP00000361592.3:n.86-29del
ENST00000372517.6:c.86-29del	ENSP00000361595.2:n.86-29del
ENST00000487556.5:n.247-4299del
NM_001017922.1:c.86-29del	NP_001017922.1:n.86-29del
NM_018538.3:c.86-29del	NP_061008.2:n.86-29del
XM_006710313.2:c.86-29del	XP_006710376.1:n.86-29del
XM_011540570.1:c.86-29del	XP_011538872.1:n.86-29del
XM_011540571.1:c.86-29del	XP_011538873.1:n.86-29del
XM_006710313.4:c.86-29del	XP_006710376.1:n.86-29del
XM_011540570.3:c.86-29del	XP_011538872.1:n.86-29del
XM_011540571.3:c.86-29del	XP_011538873.1:n.86-29del
NM_001017922.2:c.86-29del MANE Select	NP_001017922.1:n.86-29del
NM_018538.4:c.86-29del	NP_061008.2:n.86-29del