Canonical Allele Identifier: CA1327160957

Gene: ABCA12

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980452_214980455delinsCATA , CM000664.2:g.214980452_214980455delinsCATA	GRCh38
NC_000002.11:g.215845176_215845179delinsCATA , CM000664.1:g.215845176_215845179delinsCATA	GRCh37
NC_000002.10:g.215553421_215553424delinsCATA	NCBI36
NG_007074.1:g.162973_162976delinsTATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4740+28_4740+31delinsTATG MANE Select	ENSP00000272895.7:n.4740+28_4740+31delins...
ENST00000272895.11:c.4740+28_4740+31delinsTATG	ENSP00000272895.7:n.4740+28_4740+31delins...
ENST00000389661.4:c.3786+28_3786+31delinsTATG	ENSP00000374312.4:n.3786+28_3786+31delins...
NM_015657.3:c.3786+28_3786+31delinsTATG	NP_056472.2:n.3786+28_3786+31delinsTATG
NM_173076.2:c.4740+28_4740+31delinsTATG	NP_775099.2:n.4740+28_4740+31delinsTATG
NR_103740.1:n.5040+28_5040+31delinsTATG
XM_011510951.1:c.4749+28_4749+31delinsTATG	XP_011509253.1:n.4749+28_4749+31delinsTAT...
XM_011510952.1:c.4749+28_4749+31delinsTATG	XP_011509254.1:n.4749+28_4749+31delinsTAT...
XM_011510951.2:c.4749+28_4749+31delinsTATG	XP_011509253.1:n.4749+28_4749+31delinsTAT...
NM_173076.3:c.4740+28_4740+31delinsTATG MANE Select	NP_775099.2:n.4740+28_4740+31delinsTATG
NR_103740.2:n.5238+28_5238+31delinsTATG
NM_015657.4:c.3786+28_3786+31delinsTATG	NP_056472.2:n.3786+28_3786+31delinsTATG