Canonical Allele Identifier: CA2619241067

Gene: PMEL

Linked Data

• gnomAD v4: 12-55957293-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.55957296_55957297del , CM000674.2:g.55957296_55957297del	GRCh38
NC_000012.11:g.56351080_56351081del , CM000674.1:g.56351080_56351081del	GRCh37
NC_000012.10:g.54637347_54637348del	NCBI36
NG_028086.1:g.14418_14419del

Transcript Alleles

HGVS	Amino-acid change
ENST00000548747.6:c.1008_1009del MANE Select	ENSP00000448828.1:p.Pro337TrpfsTer20
ENST00000449260.6:c.1008_1009del	ENSP00000402758.2:p.Pro337TrpfsTer20
ENST00000546543.5:c.861_862del	ENSP00000446662.1:p.Pro288TrpfsTer?
ENST00000547137.5:c.846_847del	ENSP00000448849.1:p.Pro283TrpfsTer20
ENST00000548493.5:c.1008_1009del	ENSP00000447374.1:p.Pro337TrpfsTer20
ENST00000548747.5:c.1008_1009del	ENSP00000448828.1:p.Pro337TrpfsTer20
ENST00000548803.5:c.561_562del	ENSP00000447732.1:p.Pro188TrpfsTer20
ENST00000549404.5:c.670_671del
ENST00000549564.1:n.48_49del
ENST00000550447.5:c.358+1178_358+1179del	ENSP00000448029.1:n.358+1178_358+1179del
ENST00000550464.5:c.750_751del	ENSP00000450036.1:p.Pro251TrpfsTer20
ENST00000552882.5:c.1008_1009del	ENSP00000449690.1:p.Pro337TrpfsTer20
ENST00000556802.1:n.744_745del
NM_001200053.1:c.750_751del	NP_001186982.1:p.Pro251TrpfsTer20
NM_001200054.1:c.1008_1009del	NP_001186983.1:p.Pro337TrpfsTer20
NM_006928.4:c.1008_1009del	NP_008859.1:p.Pro337TrpfsTer20
XM_006719569.1:c.1008_1009del	XP_006719632.1:p.Pro337TrpfsTer20
XM_011538685.1:c.1008_1009del	XP_011536987.1:p.Pro337TrpfsTer20
XM_011538686.1:c.1008_1009del	XP_011536988.1:p.Pro337TrpfsTer20
XM_011538687.1:c.1008_1009del	XP_011536989.1:p.Pro337TrpfsTer20
NM_001320121.1:c.1008_1009del	NP_001307050.1:p.Pro337TrpfsTer20
NM_001320122.1:c.1008_1009del	NP_001307051.1:p.Pro337TrpfsTer20
NM_001384361.1:c.1008_1009del MANE Select	NP_001371290.1:p.Pro337TrpfsTer20
NM_006928.5:c.1008_1009del	NP_008859.1:p.Pro337TrpfsTer20