Canonical Allele Identifier: CA2490616

Gene: MITF

Linked Data

• dbSNP Id: rs751745642
• ExAC: 3:70013988 CTT / C
• gnomAD v2: 3-70013988-CTT-C
• gnomAD v3: 3-69964837-CTT-C
• gnomAD v4: 3-69964837-CTT-C
• MyVariant Identifiers: chr3:g.70013989_70013990del (hg19) ; chr3:g.69964838_69964839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69964838_69964839del , CM000665.2:g.69964838_69964839del	GRCh38
NC_000003.11:g.70013989_70013990del , CM000665.1:g.70013989_70013990del	GRCh37
NC_000003.10:g.70096679_70096680del	NCBI36
NG_011631.1:g.230357_230358del , LRG_776:g.230357_230358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.1114-9_1114-8del	ENSP00000324443.5:n.1114-9_1114-8del
ENST00000687384.1:c.1111-9_1111-8del	ENSP00000510225.1:n.1111-9_1111-8del
ENST00000689390.1:n.1336-9_1336-8del
ENST00000693031.1:c.1087-9_1087-8del	ENSP00000509845.1:n.1087-9_1087-8del
ENST00000693549.1:c.1114-76_1114-75del	ENSP00000509358.1:n.1114-76_1114-75del
ENST00000314589.10:c.1114-9_1114-8del	ENSP00000324443.5:n.1114-9_1114-8del
ENST00000352241.9:c.1180-9_1180-8del MANE Select	ENSP00000295600.8:n.1180-9_1180-8del
ENST00000394351.9:c.859-9_859-8del MANE Plus Clinical	ENSP00000377880.3:n.859-9_859-8del
ENST00000448226.9:c.1159-9_1159-8del	ENSP00000391803.3:n.1159-9_1159-8del
ENST00000642352.1:c.1162-9_1162-8del	ENSP00000494105.1:n.1162-9_1162-8del
ENST00000314557.10:c.841-9_841-8del	ENSP00000324246.6:n.841-9_841-8del
ENST00000314589.9:c.1114-9_1114-8del	ENSP00000324443.5:n.1114-9_1114-8del
ENST00000328528.10:c.1159-9_1159-8del	ENSP00000327867.6:n.1159-9_1159-8del
ENST00000352241.8:c.1162-9_1162-8del	ENSP00000295600.7:n.1162-9_1162-8del
ENST00000394351.7:c.859-9_859-8del	ENSP00000377880.3:n.859-9_859-8del
ENST00000448226.6:c.1180-9_1180-8del	ENSP00000391803.2:n.1180-9_1180-8del
ENST00000472437.5:c.1006-9_1006-8del	ENSP00000418845.1:n.1006-9_1006-8del
ENST00000478490.5:c.*506-9_*506-8del	ENSP00000433487.1:n.*506-9_*506-8del
ENST00000531774.1:c.673-9_673-8del	ENSP00000435909.1:n.673-9_673-8del
NM_000248.3:c.859-9_859-8del , LRG_776t1:c.859-9_859-8del	NP_000239.1:n.859-9_859-8del
NM_001184967.1:c.1006-9_1006-8del	NP_001171896.1:n.1006-9_1006-8del
NM_006722.2:c.1159-9_1159-8del	NP_006713.1:n.1159-9_1159-8del
NM_198158.2:c.841-9_841-8del	NP_937801.1:n.841-9_841-8del
NM_198159.2:c.1162-9_1162-8del	NP_937802.1:n.1162-9_1162-8del
NM_198177.2:c.1114-9_1114-8del	NP_937820.1:n.1114-9_1114-8del
NM_198178.2:c.673-9_673-8del	NP_937821.2:n.673-9_673-8del
XM_005264754.1:c.1180-9_1180-8del	XP_005264811.1:n.1180-9_1180-8del
XM_005264755.2:c.1132-9_1132-8del	XP_005264812.1:n.1132-9_1132-8del
XM_006713164.2:c.1024-9_1024-8del	XP_006713227.1:n.1024-9_1024-8del
XM_011533722.1:c.1177-9_1177-8del	XP_011532024.1:n.1177-9_1177-8del
XM_011533723.1:c.1129-9_1129-8del	XP_011532025.1:n.1129-9_1129-8del
XM_011533724.1:c.1024-9_1024-8del	XP_011532026.1:n.1024-9_1024-8del
XM_011533725.1:c.1012-9_1012-8del	XP_011532027.1:n.1012-9_1012-8del
XM_011533726.1:c.994-9_994-8del	XP_011532028.1:n.994-9_994-8del
NM_001354604.1:c.1180-9_1180-8del	NP_001341533.1:n.1180-9_1180-8del
NM_001354605.1:c.1177-9_1177-8del	NP_001341534.1:n.1177-9_1177-8del
NM_001354606.1:c.1159-9_1159-8del	NP_001341535.1:n.1159-9_1159-8del
NM_001354607.1:c.1111-9_1111-8del	NP_001341536.1:n.1111-9_1111-8del
NM_001354608.1:c.1006-9_1006-8del	NP_001341537.1:n.1006-9_1006-8del
NM_001184967.2:c.1006-9_1006-8del	NP_001171896.1:n.1006-9_1006-8del
NM_001354604.2:c.1180-9_1180-8del MANE Select	NP_001341533.1:n.1180-9_1180-8del
NM_001354605.2:c.1177-9_1177-8del	NP_001341534.1:n.1177-9_1177-8del
NM_001354606.2:c.1159-9_1159-8del	NP_001341535.1:n.1159-9_1159-8del
NM_001354607.2:c.1111-9_1111-8del	NP_001341536.1:n.1111-9_1111-8del
NM_001354608.2:c.1006-9_1006-8del	NP_001341537.1:n.1006-9_1006-8del
NM_198158.3:c.841-9_841-8del	NP_937801.1:n.841-9_841-8del
NM_198159.3:c.1162-9_1162-8del	NP_937802.1:n.1162-9_1162-8del
NM_198177.3:c.1114-9_1114-8del	NP_937820.1:n.1114-9_1114-8del
NM_198178.3:c.673-9_673-8del	NP_937821.2:n.673-9_673-8del
NM_000248.4:c.859-9_859-8del MANE Plus Clinical	NP_000239.1:n.859-9_859-8del
NM_006722.3:c.1159-9_1159-8del	NP_006713.1:n.1159-9_1159-8del