Canonical Allele Identifier: CA624455318

Gene: MC1R

Linked Data

• dbSNP Id: rs1277460742
• gnomAD v2: 16-89985860-AGAACCG-A
• gnomAD v4: 16-89919452-AGAACCG-A
• MyVariant Identifiers: chr16:g.89985861_89985866del (hg19) ; chr16:g.89919453_89919458del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919458_89919463del , CM000678.2:g.89919458_89919463del	GRCh38
NC_000016.9:g.89985866_89985871del , CM000678.1:g.89985866_89985871del	GRCh37
NC_000016.8:g.88513367_88513372del	NCBI36
NG_012026.1:g.6580_6585del
NG_027810.1:g.2450_2455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.200_205del MANE Select	ENSP00000451605.1:p.Arg67_Asn68del
ENST00000639847.1:c.200_205del	ENSP00000492011.1:p.Arg67_Asn68del
ENST00000555147.1:c.200_205del	ENSP00000451605.1:p.Arg67_Asn68del
ENST00000555427.1:c.200_205del	ENSP00000451760.1:p.Arg67_Asn68del
ENST00000556922.1:c.200_205del	ENSP00000451560.1:p.Arg67_Asn68del
NM_002386.3:c.200_205del	NP_002377.4:p.Arg67_Asn68del
NM_002386.4:c.200_205del MANE Select	NP_002377.4:p.Arg67_Asn68del