Canonical Allele Identifier: CA702615377

Gene: ABCC4

Linked Data

• dbSNP Id: rs1458334922
• gnomAD v3: 13-95061554-CTT-C
• gnomAD v4: 13-95061554-CTT-C
• MyVariant Identifiers: chr13:g.95713809_95713810del (hg19) ; chr13:g.95061555_95061556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061555_95061556del , CM000675.2:g.95061555_95061556del	GRCh38
NC_000013.10:g.95713809_95713810del , CM000675.1:g.95713809_95713810del	GRCh37
NC_000013.9:g.94511810_94511811del	NCBI36
NG_050651.1:g.244891_244892del
NG_050651.2:g.244891_244892del

Transcript Alleles

HGVS	Amino-acid change
ENST00000643051.1:c.*991+1148_*991+1149del	ENSP00000495513.1:n.*991+1148_*991+1149de...
ENST00000643842.1:c.*3412+1148_*3412+1149del	ENSP00000493861.1:n.*3412+1148_*3412+1149...
ENST00000645237.2:c.3366+1148_3366+1149del MANE Select	ENSP00000494609.1:n.3366+1148_3366+1149de...
ENST00000646439.1:c.3225+1148_3225+1149del	ENSP00000494751.1:n.3225+1148_3225+1149de...
ENST00000376887.8:c.3366+1148_3366+1149del	ENSP00000366084.4:n.3366+1148_3366+1149de...
NM_001301829.1:c.3225+1148_3225+1149del	NP_001288758.1:n.3225+1148_3225+1149del
NM_005845.4:c.3366+1148_3366+1149del	NP_005836.2:n.3366+1148_3366+1149del
XM_005254025.2:c.3237+1148_3237+1149del	XP_005254082.1:n.3237+1148_3237+1149del
XM_006719914.1:c.3276+1148_3276+1149del	XP_006719977.1:n.3276+1148_3276+1149del
XM_011521047.1:c.2817+1148_2817+1149del	XP_011519349.1:n.2817+1148_2817+1149del
XM_017020319.1:c.3237+1148_3237+1149del	XP_016875808.1:n.3237+1148_3237+1149del
XM_017020321.1:c.1851+1148_1851+1149del	XP_016875810.1:n.1851+1148_1851+1149del
NM_001301829.2:c.3225+1148_3225+1149del	NP_001288758.1:n.3225+1148_3225+1149del
NM_005845.5:c.3366+1148_3366+1149del MANE Select	NP_005836.2:n.3366+1148_3366+1149del