Canonical Allele Identifier: CA2112099193

Gene: ABCC4

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.95061661_95061663delinsTAG , CM000675.2:g.95061661_95061663delinsTAG	GRCh38
NC_000013.10:g.95713915_95713917delinsTAG , CM000675.1:g.95713915_95713917delinsTAG	GRCh37
NC_000013.9:g.94511916_94511918delinsTAG	NCBI36
NG_050651.1:g.244784_244786delinsCTA
NG_050651.2:g.244784_244786delinsCTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643051.1:c.*991+1041_*991+1043delinsCTA	ENSP00000495513.1:n.*991+1041_*991+1043delinsCTA
ENST00000643842.1:c.*3412+1041_*3412+1043delinsCTA	ENSP00000493861.1:n.*3412+1041_*3412+1043delinsCTA
ENST00000645237.2:c.3366+1041_3366+1043delinsCTA MANE Select	ENSP00000494609.1:n.3366+1041_3366+1043delinsCTA
ENST00000646439.1:c.3225+1041_3225+1043delinsCTA	ENSP00000494751.1:n.3225+1041_3225+1043delinsCTA
ENST00000376887.8:c.3366+1041_3366+1043delinsCTA	ENSP00000366084.4:n.3366+1041_3366+1043delinsCTA
NM_001301829.1:c.3225+1041_3225+1043delinsCTA	NP_001288758.1:n.3225+1041_3225+1043delinsCTA
NM_005845.4:c.3366+1041_3366+1043delinsCTA	NP_005836.2:n.3366+1041_3366+1043delinsCTA
XM_005254025.2:c.3237+1041_3237+1043delinsCTA	XP_005254082.1:n.3237+1041_3237+1043delinsCTA
XM_006719914.1:c.3276+1041_3276+1043delinsCTA	XP_006719977.1:n.3276+1041_3276+1043delinsCTA
XM_011521047.1:c.2817+1041_2817+1043delinsCTA	XP_011519349.1:n.2817+1041_2817+1043delinsCTA
XM_017020319.1:c.3237+1041_3237+1043delinsCTA	XP_016875808.1:n.3237+1041_3237+1043delinsCTA
XM_017020321.1:c.1851+1041_1851+1043delinsCTA	XP_016875810.1:n.1851+1041_1851+1043delinsCTA
NM_001301829.2:c.3225+1041_3225+1043delinsCTA	NP_001288758.1:n.3225+1041_3225+1043delinsCTA
NM_005845.5:c.3366+1041_3366+1043delinsCTA MANE Select	NP_005836.2:n.3366+1041_3366+1043delinsCTA