Canonical Allele Identifier: CA8255724

Gene: MC1R

Linked Data

• dbSNP Id: rs768777016
• ExAC: 16:89986392 CCT / C
• gnomAD v2: 16-89986392-CCT-C
• gnomAD v4: 16-89919984-CCT-C
• MyVariant Identifiers: chr16:g.89986393_89986394del (hg19) ; chr16:g.89919985_89919986del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919986_89919987del , CM000678.2:g.89919986_89919987del	GRCh38
NC_000016.9:g.89986394_89986395del , CM000678.1:g.89986394_89986395del	GRCh37
NC_000016.8:g.88513895_88513896del	NCBI36
NG_012026.1:g.7108_7109del
NG_027810.1:g.2978_2979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.728_729del MANE Select	ENSP00000451605.1:p.Leu243HisfsTer?
ENST00000639847.1:c.728_729del	ENSP00000492011.1:p.Leu243HisfsTer?
ENST00000555147.1:c.728_729del	ENSP00000451605.1:p.Leu243HisfsTer?
ENST00000555427.1:c.728_729del	ENSP00000451760.1:p.Leu243HisfsTer?
ENST00000556922.1:c.728_729del	ENSP00000451560.1:p.Leu243HisfsTer?
NM_002386.3:c.728_729del	NP_002377.4:p.Leu243HisfsTer?
NM_002386.4:c.728_729del MANE Select	NP_002377.4:p.Leu243HisfsTer?