Canonical Allele Identifier: CA254221927

Gene: ABCC4

Linked Data

• dbSNP Id: rs377234749
• gnomAD v2: 13-95823460-ACTT-A
• gnomAD v3: 13-95171206-ACTT-A
• gnomAD v4: 13-95171206-ACTT-A
• MyVariant Identifiers: chr13:g.95823461_95823463del (hg19) ; chr13:g.95171207_95171209del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95171209_95171211del , CM000675.2:g.95171209_95171211del	GRCh38
NC_000013.10:g.95823463_95823465del , CM000675.1:g.95823463_95823465del	GRCh37
NC_000013.9:g.94621464_94621466del	NCBI36
NG_050651.1:g.135238_135240del
NG_050651.2:g.135238_135240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642524.1:c.*1761-581_*1761-579del	ENSP00000493766.1:n.*1761-581_*1761-579del
ENST00000643051.1:c.1728-581_1728-579del	ENSP00000495513.1:n.1728-581_1728-579del
ENST00000643556.1:c.1869-581_1869-579del	ENSP00000494938.1:n.1869-581_1869-579del
ENST00000643816.1:n.2011-581_2011-579del
ENST00000643842.1:c.*1774-581_*1774-579del	ENSP00000493861.1:n.*1774-581_*1774-579del
ENST00000644471.1:n.1819-581_1819-579del
ENST00000645237.2:c.1728-581_1728-579del MANE Select	ENSP00000494609.1:n.1728-581_1728-579del
ENST00000645532.1:c.1767-581_1767-579del	ENSP00000494431.1:n.1767-581_1767-579del
ENST00000646439.1:c.1728-581_1728-579del	ENSP00000494751.1:n.1728-581_1728-579del
ENST00000376887.8:c.1728-581_1728-579del	ENSP00000366084.4:n.1728-581_1728-579del
ENST00000536256.3:c.1503-581_1503-579del	ENSP00000442024.1:n.1503-581_1503-579del
ENST00000629385.1:c.1728-581_1728-579del	ENSP00000487081.1:n.1728-581_1728-579del
NM_001105515.2:c.1728-581_1728-579del	NP_001098985.1:n.1728-581_1728-579del
NM_001301829.1:c.1728-581_1728-579del	NP_001288758.1:n.1728-581_1728-579del
NM_001301830.1:c.1503-581_1503-579del	NP_001288759.1:n.1503-581_1503-579del
NM_005845.4:c.1728-581_1728-579del	NP_005836.2:n.1728-581_1728-579del
XM_005254025.2:c.1599-581_1599-579del	XP_005254082.1:n.1599-581_1599-579del
XM_006719914.1:c.1638-581_1638-579del	XP_006719977.1:n.1638-581_1638-579del
XM_011521047.1:c.1179-581_1179-579del	XP_011519349.1:n.1179-581_1179-579del
XM_017020319.1:c.1599-581_1599-579del	XP_016875808.1:n.1599-581_1599-579del
XM_017020320.2:c.1728-581_1728-579del	XP_016875809.1:n.1728-581_1728-579del
XM_017020321.1:c.213-581_213-579del	XP_016875810.1:n.213-581_213-579del
XM_017020322.1:c.1599-581_1599-579del	XP_016875811.1:n.1599-581_1599-579del
NM_001105515.3:c.1728-581_1728-579del	NP_001098985.1:n.1728-581_1728-579del
NM_001301829.2:c.1728-581_1728-579del	NP_001288758.1:n.1728-581_1728-579del
NM_001301830.2:c.1503-581_1503-579del	NP_001288759.1:n.1503-581_1503-579del
NM_005845.5:c.1728-581_1728-579del MANE Select	NP_005836.2:n.1728-581_1728-579del