Canonical Allele Identifier: CA702615702

Gene: ABCC4

Linked Data

• dbSNP Id: rs1233461408
• gnomAD v3: 13-95061661-TAG-T
• gnomAD v4: 13-95061661-TAG-T
• MyVariant Identifiers: chr13:g.95713916_95713917del (hg19) ; chr13:g.95061662_95061663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061664_95061665del , CM000675.2:g.95061664_95061665del	GRCh38
NC_000013.10:g.95713918_95713919del , CM000675.1:g.95713918_95713919del	GRCh37
NC_000013.9:g.94511919_94511920del	NCBI36
NG_050651.1:g.244784_244785del
NG_050651.2:g.244784_244785del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1041_*991+1042del	ENSP00000495513.1:n.*991+1041_*991+1042del
ENST00000643842.1:c.*3412+1041_*3412+1042del	ENSP00000493861.1:n.*3412+1041_*3412+1042del
ENST00000645237.2:c.3366+1041_3366+1042del MANE Select	ENSP00000494609.1:n.3366+1041_3366+1042del
ENST00000646439.1:c.3225+1041_3225+1042del	ENSP00000494751.1:n.3225+1041_3225+1042del
ENST00000376887.8:c.3366+1041_3366+1042del	ENSP00000366084.4:n.3366+1041_3366+1042del
NM_001301829.1:c.3225+1041_3225+1042del	NP_001288758.1:n.3225+1041_3225+1042del
NM_005845.4:c.3366+1041_3366+1042del	NP_005836.2:n.3366+1041_3366+1042del
XM_005254025.2:c.3237+1041_3237+1042del	XP_005254082.1:n.3237+1041_3237+1042del
XM_006719914.1:c.3276+1041_3276+1042del	XP_006719977.1:n.3276+1041_3276+1042del
XM_011521047.1:c.2817+1041_2817+1042del	XP_011519349.1:n.2817+1041_2817+1042del
XM_017020319.1:c.3237+1041_3237+1042del	XP_016875808.1:n.3237+1041_3237+1042del
XM_017020321.1:c.1851+1041_1851+1042del	XP_016875810.1:n.1851+1041_1851+1042del
NM_001301829.2:c.3225+1041_3225+1042del	NP_001288758.1:n.3225+1041_3225+1042del
NM_005845.5:c.3366+1041_3366+1042del MANE Select	NP_005836.2:n.3366+1041_3366+1042del