Canonical Allele Identifier: CA2577819599

Gene: MITF

Linked Data

• gnomAD v4: 3-69949222-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.69949224_69949225del , CM000665.2:g.69949224_69949225del	GRCh38
NC_000003.11:g.69998375_69998376del , CM000665.1:g.69998375_69998376del	GRCh37
NC_000003.10:g.70081065_70081066del	NCBI36
NG_011631.1:g.214743_214744del , LRG_776:g.214743_214744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314589.11:c.832+56_832+57del	ENSP00000324443.5:n.832+56_832+57del
ENST00000687384.1:c.829+56_829+57del	ENSP00000510225.1:n.829+56_829+57del
ENST00000689390.1:n.1054+56_1054+57del
ENST00000693031.1:c.805+56_805+57del	ENSP00000509845.1:n.805+56_805+57del
ENST00000693549.1:c.832+56_832+57del	ENSP00000509358.1:n.832+56_832+57del
ENST00000314589.10:c.832+56_832+57del	ENSP00000324443.5:n.832+56_832+57del
ENST00000352241.9:c.880+56_880+57del MANE Select	ENSP00000295600.8:n.880+56_880+57del
ENST00000394351.9:c.559+56_559+57del MANE Plus Clinical	ENSP00000377880.3:n.559+56_559+57del
ENST00000448226.9:c.877+56_877+57del	ENSP00000391803.3:n.877+56_877+57del
ENST00000642352.1:c.880+56_880+57del	ENSP00000494105.1:n.880+56_880+57del
ENST00000314557.10:c.559+56_559+57del	ENSP00000324246.6:n.559+56_559+57del
ENST00000314589.9:c.832+56_832+57del	ENSP00000324443.5:n.832+56_832+57del
ENST00000328528.10:c.877+56_877+57del	ENSP00000327867.6:n.877+56_877+57del
ENST00000352241.8:c.880+56_880+57del	ENSP00000295600.7:n.880+56_880+57del
ENST00000394351.7:c.559+56_559+57del	ENSP00000377880.3:n.559+56_559+57del
ENST00000448226.6:c.880+56_880+57del	ENSP00000391803.2:n.880+56_880+57del
ENST00000451708.5:c.832+56_832+57del	ENSP00000398639.1:n.832+56_832+57del
ENST00000472437.5:c.724+56_724+57del	ENSP00000418845.1:n.724+56_724+57del
ENST00000478490.5:c.*206+56_*206+57del	ENSP00000433487.1:n.*206+56_*206+57del
ENST00000531774.1:c.391+56_391+57del	ENSP00000435909.1:n.391+56_391+57del
NM_000248.3:c.559+56_559+57del , LRG_776t1:c.559+56_559+57del	NP_000239.1:n.559+56_559+57del
NM_001184967.1:c.724+56_724+57del	NP_001171896.1:n.724+56_724+57del
NM_006722.2:c.877+56_877+57del	NP_006713.1:n.877+56_877+57del
NM_198158.2:c.559+56_559+57del	NP_937801.1:n.559+56_559+57del
NM_198159.2:c.880+56_880+57del	NP_937802.1:n.880+56_880+57del
NM_198177.2:c.832+56_832+57del	NP_937820.1:n.832+56_832+57del
NM_198178.2:c.391+56_391+57del	NP_937821.2:n.391+56_391+57del
XM_005264754.1:c.880+56_880+57del	XP_005264811.1:n.880+56_880+57del
XM_005264755.2:c.832+56_832+57del	XP_005264812.1:n.832+56_832+57del
XM_006713164.2:c.724+56_724+57del	XP_006713227.1:n.724+56_724+57del
XM_011533722.1:c.877+56_877+57del	XP_011532024.1:n.877+56_877+57del
XM_011533723.1:c.829+56_829+57del	XP_011532025.1:n.829+56_829+57del
XM_011533724.1:c.724+56_724+57del	XP_011532026.1:n.724+56_724+57del
XM_011533725.1:c.712+56_712+57del	XP_011532027.1:n.712+56_712+57del
XM_011533726.1:c.712+56_712+57del	XP_011532028.1:n.712+56_712+57del
NM_001354604.1:c.880+56_880+57del	NP_001341533.1:n.880+56_880+57del
NM_001354605.1:c.877+56_877+57del	NP_001341534.1:n.877+56_877+57del
NM_001354606.1:c.877+56_877+57del	NP_001341535.1:n.877+56_877+57del
NM_001354607.1:c.829+56_829+57del	NP_001341536.1:n.829+56_829+57del
NM_001354608.1:c.724+56_724+57del	NP_001341537.1:n.724+56_724+57del
NM_001184967.2:c.724+56_724+57del	NP_001171896.1:n.724+56_724+57del
NM_001354604.2:c.880+56_880+57del MANE Select	NP_001341533.1:n.880+56_880+57del
NM_001354605.2:c.877+56_877+57del	NP_001341534.1:n.877+56_877+57del
NM_001354606.2:c.877+56_877+57del	NP_001341535.1:n.877+56_877+57del
NM_001354607.2:c.829+56_829+57del	NP_001341536.1:n.829+56_829+57del
NM_001354608.2:c.724+56_724+57del	NP_001341537.1:n.724+56_724+57del
NM_198158.3:c.559+56_559+57del	NP_937801.1:n.559+56_559+57del
NM_198159.3:c.880+56_880+57del	NP_937802.1:n.880+56_880+57del
NM_198177.3:c.832+56_832+57del	NP_937820.1:n.832+56_832+57del
NM_198178.3:c.391+56_391+57del	NP_937821.2:n.391+56_391+57del
NM_000248.4:c.559+56_559+57del MANE Plus Clinical	NP_000239.1:n.559+56_559+57del
NM_006722.3:c.877+56_877+57del	NP_006713.1:n.877+56_877+57del