Canonical Allele Identifier: CA2242009547
Gene: MC1R HGNC NCBI

Linked Data

dbSNP Id: rs2045696702
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89919701_89919702insG , CM000678.2:g.89919701_89919702insG GRCh38
NC_000016.9:g.89986109_89986110insG , CM000678.1:g.89986109_89986110insG GRCh37
NC_000016.8:g.88513610_88513611insG NCBI36
NG_012026.1:g.6823_6824insG
NG_027810.1:g.2693_2694insG

Transcript Alleles

HGVS Amino-acid change
ENST00000555147.2:c.443_444insG MANE Select ENSP00000451605.1:p.Tyr148Ter
ENST00000639847.1:c.443_444insG ENSP00000492011.1:p.Tyr148Ter
ENST00000555147.1:c.443_444insG ENSP00000451605.1:p.Tyr148Ter
ENST00000555427.1:c.443_444insG ENSP00000451760.1:p.Tyr148Ter
ENST00000556922.1:c.443_444insG ENSP00000451560.1:p.Tyr148Ter
NM_002386.3:c.443_444insG NP_002377.4:p.Tyr148Ter
NM_002386.4:c.443_444insG MANE Select NP_002377.4:p.Tyr148Ter
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Search 100 bp 3'