Canonical Allele Identifier: CA254232527

Gene: ABCC4

Linked Data

• dbSNP Id: rs778574499
• gnomAD v3: 13-95122995-CAT-C
• gnomAD v4: 13-95122995-CAT-C
• MyVariant Identifiers: chr13:g.95775250_95775251del (hg19) ; chr13:g.95122996_95122997del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95122996_95122997del , CM000675.2:g.95122996_95122997del	GRCh38
NC_000013.10:g.95775250_95775251del , CM000675.1:g.95775250_95775251del	GRCh37
NC_000013.9:g.94573251_94573252del	NCBI36
NG_050651.1:g.183450_183451del
NG_050651.2:g.183450_183451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*81-6996_*81-6995del	ENSP00000495513.1:n.*81-6996_*81-6995del
ENST00000643556.1:c.2597-6996_2597-6995del	ENSP00000494938.1:n.2597-6996_2597-6995del
ENST00000643816.1:n.2739-6996_2739-6995del
ENST00000643842.1:c.*2502-6996_*2502-6995del	ENSP00000493861.1:n.*2502-6996_*2502-6995del
ENST00000644880.1:n.66-6996_66-6995del
ENST00000645237.2:c.2456-6996_2456-6995del MANE Select	ENSP00000494609.1:n.2456-6996_2456-6995del
ENST00000646439.1:c.2315-6996_2315-6995del	ENSP00000494751.1:n.2315-6996_2315-6995del
ENST00000376887.8:c.2456-6996_2456-6995del	ENSP00000366084.4:n.2456-6996_2456-6995del
ENST00000536256.3:c.2231-6996_2231-6995del	ENSP00000442024.1:n.2231-6996_2231-6995del
ENST00000629385.1:c.2456-6996_2456-6995del	ENSP00000487081.1:n.2456-6996_2456-6995del
NM_001105515.2:c.2456-6996_2456-6995del	NP_001098985.1:n.2456-6996_2456-6995del
NM_001301829.1:c.2315-6996_2315-6995del	NP_001288758.1:n.2315-6996_2315-6995del
NM_001301830.1:c.2231-6996_2231-6995del	NP_001288759.1:n.2231-6996_2231-6995del
NM_005845.4:c.2456-6996_2456-6995del	NP_005836.2:n.2456-6996_2456-6995del
XM_005254025.2:c.2327-6996_2327-6995del	XP_005254082.1:n.2327-6996_2327-6995del
XM_006719914.1:c.2366-6996_2366-6995del	XP_006719977.1:n.2366-6996_2366-6995del
XM_011521047.1:c.1907-6996_1907-6995del	XP_011519349.1:n.1907-6996_1907-6995del
XM_017020319.1:c.2327-6996_2327-6995del	XP_016875808.1:n.2327-6996_2327-6995del
XM_017020321.1:c.941-6996_941-6995del	XP_016875810.1:n.941-6996_941-6995del
XM_017020322.1:c.2327-6996_2327-6995del	XP_016875811.1:n.2327-6996_2327-6995del
NM_001105515.3:c.2456-6996_2456-6995del	NP_001098985.1:n.2456-6996_2456-6995del
NM_001301829.2:c.2315-6996_2315-6995del	NP_001288758.1:n.2315-6996_2315-6995del
NM_001301830.2:c.2231-6996_2231-6995del	NP_001288759.1:n.2231-6996_2231-6995del
NM_005845.5:c.2456-6996_2456-6995del MANE Select	NP_005836.2:n.2456-6996_2456-6995del