Canonical Allele Identifier: CA2619240920

Gene: PMEL

Linked Data

• gnomAD v4: 12-55957039-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957041_55957042del , CM000674.2:g.55957041_55957042del	GRCh38
NC_000012.11:g.56350825_56350826del , CM000674.1:g.56350825_56350826del	GRCh37
NC_000012.10:g.54637092_54637093del	NCBI36
NG_028086.1:g.14672_14673del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000548747.6:c.1262_1263del MANE Select	ENSP00000448828.1:p.Thr421ArgfsTer8
ENST00000449260.6:c.1262_1263del	ENSP00000402758.2:p.Thr421ArgfsTer8
ENST00000548493.5:c.1262_1263del	ENSP00000447374.1:p.Thr421ArgfsTer8
ENST00000548747.5:c.1262_1263del	ENSP00000448828.1:p.Thr421ArgfsTer8
ENST00000548803.5:c.689_690del	ENSP00000447732.1:p.Thr230ArgfsTer8
ENST00000549404.5:c.798_799del
ENST00000549564.1:n.235+67_235+68del
ENST00000550447.5:c.359-1178_359-1177del	ENSP00000448029.1:n.359-1178_359-1177del
ENST00000550464.5:c.1004_1005del	ENSP00000450036.1:p.Thr335ArgfsTer8
ENST00000552882.5:c.1262_1263del	ENSP00000449690.1:p.Thr421ArgfsTer8
NM_001200053.1:c.1004_1005del	NP_001186982.1:p.Thr335ArgfsTer8
NM_001200054.1:c.1262_1263del	NP_001186983.1:p.Thr421ArgfsTer8
NM_006928.4:c.1262_1263del	NP_008859.1:p.Thr421ArgfsTer8
XM_006719569.1:c.1262_1263del	XP_006719632.1:p.Thr421ArgfsTer8
XM_011538685.1:c.1262_1263del	XP_011536987.1:p.Thr421ArgfsTer8
XM_011538686.1:c.1136_1137del	XP_011536988.1:p.Thr379ArgfsTer8
XM_011538687.1:c.1136_1137del	XP_011536989.1:p.Thr379ArgfsTer8
NM_001320121.1:c.1136_1137del	NP_001307050.1:p.Thr379ArgfsTer8
NM_001320122.1:c.1136_1137del	NP_001307051.1:p.Thr379ArgfsTer8
NM_001384361.1:c.1262_1263del MANE Select	NP_001371290.1:p.Thr421ArgfsTer8
NM_006928.5:c.1262_1263del	NP_008859.1:p.Thr421ArgfsTer8