Canonical Allele Identifier: CA539837721

Gene: ABCA12

Linked Data

• gnomAD v2: 2-215876548-C-CAAAAAAA
• gnomAD v3: 2-215011824-C-CAAAAAAA
• gnomAD v4: 2-215011824-C-CAAAAAAA
• MyVariant Identifiers: chr2:g.215876548_215876549insAAAAAAA (hg19) ; chr2:g.215011824_215011825insAAAAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215011829_215011830insAAAAAAA , CM000664.2:g.215011829_215011830insAAAAAAA	GRCh38
NC_000002.11:g.215876553_215876554insAAAAAAA , CM000664.1:g.215876553_215876554insAAAAAAA	GRCh37
NC_000002.10:g.215584798_215584799insAAAAAAA	NCBI36
NG_007074.1:g.131603_131604insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.2121+146_2121+147insTTTTTTT MANE Select	ENSP00000272895.7:n.2121+146_2121+147insTTTTTTT
ENST00000272895.11:c.2121+146_2121+147insTTTTTTT	ENSP00000272895.7:n.2121+146_2121+147insTTTTTTT
ENST00000389661.4:c.1167+146_1167+147insTTTTTTT	ENSP00000374312.4:n.1167+146_1167+147insTTTTTTT
NM_015657.3:c.1167+146_1167+147insTTTTTTT	NP_056472.2:n.1167+146_1167+147insTTTTTTT
NM_173076.2:c.2121+146_2121+147insTTTTTTT	NP_775099.2:n.2121+146_2121+147insTTTTTTT
NR_103740.1:n.2365+146_2365+147insTTTTTTT
XM_011510951.1:c.2121+146_2121+147insTTTTTTT	XP_011509253.1:n.2121+146_2121+147insTTTTTTT
XM_011510952.1:c.2121+146_2121+147insTTTTTTT	XP_011509254.1:n.2121+146_2121+147insTTTTTTT
XM_011510951.2:c.2121+146_2121+147insTTTTTTT	XP_011509253.1:n.2121+146_2121+147insTTTTTTT
NM_173076.3:c.2121+146_2121+147insTTTTTTT MANE Select	NP_775099.2:n.2121+146_2121+147insTTTTTTT
NR_103740.2:n.2563+146_2563+147insTTTTTTT
NM_015657.4:c.1167+146_1167+147insTTTTTTT	NP_056472.2:n.1167+146_1167+147insTTTTTTT