Canonical Allele Identifier: CA2517546215

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019499_215019500insG , CM000664.2:g.215019499_215019500insG	GRCh38
NC_000002.11:g.215884223_215884224insG , CM000664.1:g.215884223_215884224insG	GRCh37
NC_000002.10:g.215592468_215592469insG	NCBI36
NG_007074.1:g.123928_123929insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1544+40_1544+41insC MANE Select	ENSP00000272895.7:n.1544+40_1544+41insC
ENST00000272895.11:c.1544+40_1544+41insC	ENSP00000272895.7:n.1544+40_1544+41insC
ENST00000389661.4:c.590+40_590+41insC	ENSP00000374312.4:n.590+40_590+41insC
NM_015657.3:c.590+40_590+41insC	NP_056472.2:n.590+40_590+41insC
NM_173076.2:c.1544+40_1544+41insC	NP_775099.2:n.1544+40_1544+41insC
NR_103740.1:n.1788+40_1788+41insC
XM_011510951.1:c.1544+40_1544+41insC	XP_011509253.1:n.1544+40_1544+41insC
XM_011510952.1:c.1544+40_1544+41insC	XP_011509254.1:n.1544+40_1544+41insC
XM_011510951.2:c.1544+40_1544+41insC	XP_011509253.1:n.1544+40_1544+41insC
NM_173076.3:c.1544+40_1544+41insC MANE Select	NP_775099.2:n.1544+40_1544+41insC
NR_103740.2:n.1986+40_1986+41insC
NM_015657.4:c.590+40_590+41insC	NP_056472.2:n.590+40_590+41insC