Canonical Allele Identifier: CA918751202

Gene: COL17A1

Linked Data

• dbSNP Id: rs61382109

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037937_104037938del , CM000672.2:g.104037937_104037938del	GRCh38
NC_000010.10:g.105797695_105797696del , CM000672.1:g.105797695_105797696del	GRCh37
NC_000010.9:g.105787685_105787686del	NCBI36
NG_007069.1:g.52944_52945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-164_2936-163del	ENSP00000358748.3:n.2936-164_2936-163del
ENST00000648076.2:c.3071-164_3071-163del MANE Select	ENSP00000497653.1:n.3071-164_3071-163del
ENST00000353479.9:c.3071-164_3071-163del	ENSP00000340937.5:n.3071-164_3071-163del
ENST00000369733.7:c.2936-164_2936-163del	ENSP00000358748.3:n.2936-164_2936-163del
NM_000494.3:c.3071-164_3071-163del	NP_000485.3:n.3071-164_3071-163del
NM_000494.4:c.3071-164_3071-163del MANE Select	NP_000485.3:n.3071-164_3071-163del