Canonical Allele Identifier: CA1327174212

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011712_215011716delinsCAGAG , CM000664.2:g.215011712_215011716delinsCAGAG	GRCh38
NC_000002.11:g.215876436_215876440delinsCAGAG , CM000664.1:g.215876436_215876440delinsCAGAG	GRCh37
NC_000002.10:g.215584681_215584685delinsCAGAG	NCBI36
NG_007074.1:g.131712_131716delinsCTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2122-67_2122-63delinsCTCTG MANE Select	ENSP00000272895.7:n.2122-67_2122-63delinsCTCTG
ENST00000272895.11:c.2122-67_2122-63delinsCTCTG	ENSP00000272895.7:n.2122-67_2122-63delinsCTCTG
ENST00000389661.4:c.1168-67_1168-63delinsCTCTG	ENSP00000374312.4:n.1168-67_1168-63delinsCTCTG
NM_015657.3:c.1168-67_1168-63delinsCTCTG	NP_056472.2:n.1168-67_1168-63delinsCTCTG
NM_173076.2:c.2122-67_2122-63delinsCTCTG	NP_775099.2:n.2122-67_2122-63delinsCTCTG
NR_103740.1:n.2366-67_2366-63delinsCTCTG
XM_011510951.1:c.2122-67_2122-63delinsCTCTG	XP_011509253.1:n.2122-67_2122-63delinsCTCTG
XM_011510952.1:c.2122-67_2122-63delinsCTCTG	XP_011509254.1:n.2122-67_2122-63delinsCTCTG
XM_011510951.2:c.2122-67_2122-63delinsCTCTG	XP_011509253.1:n.2122-67_2122-63delinsCTCTG
NM_173076.3:c.2122-67_2122-63delinsCTCTG MANE Select	NP_775099.2:n.2122-67_2122-63delinsCTCTG
NR_103740.2:n.2564-67_2564-63delinsCTCTG
NM_015657.4:c.1168-67_1168-63delinsCTCTG	NP_056472.2:n.1168-67_1168-63delinsCTCTG