Canonical Allele Identifier: CA2635066587

Gene: MC1R

Linked Data

• gnomAD v4: 16-89919802-T-TCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC , CM000678.2:g.89919802_89919803insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	GRCh38
NC_000016.9:g.89986210_89986211insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC , CM000678.1:g.89986210_89986211insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	GRCh37
NC_000016.8:g.88513711_88513712insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	NCBI36
NG_012026.1:g.6924_6925insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC
NG_027810.1:g.2794_2795insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555147.2:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC MANE Select	ENSP00000451605.1:p.Tyr182SerfsTer2
ENST00000639847.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	ENSP00000492011.1:p.Tyr182SerfsTer2
ENST00000555147.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	ENSP00000451605.1:p.Tyr182SerfsTer2
ENST00000555427.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	ENSP00000451760.1:p.Tyr182SerfsTer2
ENST00000556922.1:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	ENSP00000451560.1:p.Tyr182SerfsTer2
NM_002386.3:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC	NP_002377.4:p.Tyr182SerfsTer2
NM_002386.4:c.544_545insCCTGAGGGCCGGTTCTAAGGCTCAGACTGGGC MANE Select	NP_002377.4:p.Tyr182SerfsTer2